ClinGen Allele Registry
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Canonical Allele Identifier:
CA414796499
Gene: MT-ATP8
HGNC
NCBI
Linked Data
dbSNP Id:
rs1603221565
MyVariant Identifiers:
chrMT:g.8525A>G (hg38)
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Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8525A>G , J01415.2:m.8525A>G
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361851.1:c.160A>G
ENSP00000355265.1:p.Lys54Glu
Search 100 bp 5'
Search 100 bp 3'